2017-01-01   Soad Al Bahar , Adriana Zamecnikova 

1.Kuwait Cancer Control Center, Department of Hematology annaadria@yahoo.com


Review on t(5;17)(p11;q11) and t(5;17)(q11-12;q11-12), with data on clinics.

Clinics and Pathology


Acute myeloid leukemia (AML)


Described in 2 male and 3 female patients aged 28 to 70 years; Acute myeloblastic leukemia with maturation (FAB type M2) in 3 (Huebner et al., 2000; Paietta et al., 1988; Arnaud et al., 2005) and AML-NOS in 2 patients (Suciu et al., 1993; Kerndrup and Kjeldsen., 2001) (Table 1).
Table 1. Reported patients with t(5;17)(p11-12-q11;q11-12).
1 M/28 AML-M2 43,XY,-5,t(5;17)(p11;q11),-7,add(16),-17,-20
radiotherapy, chemotherapy
2F/61 AML-M246-48,XX,t(5;17)(q12;q12),+8,t(12;19)(q13;q13),-13,-17,+18,+1-3mar
3F/62 AML47,XX,hsr(1)(q32),t(5;17)(q11;q11),+8,+11,t(14;15)(p11;p11),add(19)(p?),+21
4F AML 45,XX,-3,der(5),t(5;17)(q11;q11),+8,del(12),der(12)t(3;12)(p11;q21),-17,+mar/45,XX, -3,der(5),t(5;17),+8,der(10)t(10;11)(q26;?),der(12)t(3;12),-17
5M/70 AML-M246,XY,t(5;17)(q11;q11),-7,+add(11)(q25),+13,del(13)(q31)x2,-16,-17,-18,+2mar, dmin

Abbreviations: M, male; F, female; AML-M2, Acute myeloblastic leukemia with maturation (FAB type M2), AML, Acute myeloid leukemia, NOS.
1. Huebner et al., 2000; 2. Paietta et al., 1988; 3. Suciu et al., 1993; 4. Kerndrup & Kjeldsen., 2001; 5. Arnaud et al., 2005.


May represent an unfavorable cytogenetic prognostic category in association with monosomy 7 and/or complex karyotypes.


Cytogenetics morphological

Presents as 1 normal chromosome 5 and 17, a der(5) chromosome containing the short arms of chromosomes 5 and 17, and a der(17) chromosome containing the long arms of both chromosomes; breakpoints at or near the centromeres may be uncertain; the most common described translocation was t(5;17)(q11;q11) reported in 3 out of 5 patients. Fluorescence in situ hybridization with centromere-specific probes for chromosomes 5 and 17 allows precise breakpoint definition and confirm the presence of a chromosome centromere and/or the unbalanced dic(5;17) rearrangement.

Additional anomalies

Complex chromosome rearrangements in all the 5 described patients, found in association with monosomy 7 in 2 (Huebner et al., 2000; Arnaud et al., 2005) and trisomy 8 in 3 patients (Paietta et al., 1988; Suciu et al., 1993; Kerndrup and Kjeldsen., 2001).

Result of the Chromosomal Anomaly


The reciprocal, apparently balanced t(5;17)(p11-q11;q11) is a rare but non-random anomaly in acute myeloid leukemia, that may be particularly associated with acute myeloblastic leukemia with maturation (AML-M2). The key mechanism of oncogenesis is unknown; however as it presents in association with known anomalies such as monosomy 7 or trisomy 8 in all the described cases, it is likely that it represents a secondary anomaly that developed during the multistep process of leukemogenesis.


Pubmed IDLast YearTitleAuthors
109722312000Myelodysplastic syndrome and acute myelogenous leukemia secondary to heart transplantation.Huebner G et al
111653152001Acute leukemia cytogenetics: an evaluation of combining G-band karyotyping with multi-color spectral karyotyping.Kerndrup GB et al
33959901988Translocation t(12;19)(q13;q13.3). A new recurrent abnormality in acute nonlymphocytic leukemia with atypical erythropoiesis.Paietta E et al
82216051993Immunophenotype of mitotic cells with clonal chromosome abnormalities demonstrating multilineage involvement in acute myeloid leukemia.Suciu S et al


Atlas Image
Figure 1. (A) Partial karyotypes showing the t(5;17)(p11;q11). (B) Fluorescence in situ hybridization with LSI TP53/CEP17 probe (Vysis, Abott Moleculars, US) showing the chromosome 17 centromere (green) and the p53 gene (red) on der(17) chromosome containing the short arms of chromosomes 5 and 17. (C) Hybridization with LSI CSF1R/D5S23/D5S721 hybridizing on 5p13.2 (green) and 5q33 (red) showing the signal for 5p (green) on der(17) and the signal for 5q33 (red) on der(5) chromosome. (D) Simultaneous hybridization with LSI TP53/CEP17 and LSI CSF1R/D5S23/D5S721 probes demonstrating the presence of TP53/CEP17 and 5p13 signals on der(17) and the 5q33 signal on der(5) chromosome containing the long arm of chromosome 17.


Soad Al Bahar ; Adriana Zamecnikova


Atlas Genet Cytogenet Oncol Haematol. 2017-01-01

Online version: http://atlasgeneticsoncology.org/haematological/1772/t(5;17)(p11;q11)